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December 2009, Volume 46, Issue 12

[Author index]

Cover
  1. Review
  2. Original articles
  3. Short report
  4. Letters to JMG
  5. PostScript
  6. Mutation report
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Issue information

[Table of contents PDF][Front matter PDF]

Review

  • Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer

    • M P Hitchins,
    • R L Ward
    J Med Genet 2009;46:12 793-802 Published Online First: 29 June 2009 doi:10.1136/jmg.2009.068122

Original articles

  • Clinical and cellular characterisation of Hermansky–Pudlak syndrome type 6

    • M Huizing,
    • B Pederson,
    • R A Hess,
    • A Griffin,
    • A Helip-Wooley,
    • W Westbroek,
    • H Dorward,
    • K J O’Brien,
    • G Golas,
    • E Tsilou,
    • J G White,
    • W A Gahl
    J Med Genet 2009;46:12 803-810 Published Online First: 20 October 2009 doi:10.1136/jmg.2008.065961

  • Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing

    • D G R Evans,
    • F Lalloo,
    • A Cramer,
    • E A Jones,
    • F Knox,
    • E Amir,
    • A Howell
    J Med Genet 2009;46:12 811-817 Published Online First: 18 June 2009 doi:10.1136/jmg.2009.067850

  • Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation

    • M Sévin,
    • Z Kutalik,
    • S Bergman,
    • M Vercelletto,
    • P Renou,
    • E Lamy,
    • F J Vingerhoets,
    • G Di Virgilio,
    • P Boisseau,
    • S Bezieau,
    • L Pasquier,
    • J-M Rival,
    • J S Beckmann,
    • P Damier,
    • S Jacquemont
    J Med Genet 2009;46:12 818-824 Published Online First: 18 June 2009 doi:10.1136/jmg.2008.065953

  • Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

    • S C Sreenath Nagamani,
    • F Zhang,
    • O A Shchelochkov,
    • W Bi,
    • Z Ou,
    • F Scaglia,
    • F J Probst,
    • M Shinawi,
    • C Eng,
    • J V Hunter,
    • S Sparagana,
    • E Lagoe,
    • C-T Fong,
    • M Pearson,
    • M Doco-Fenzy,
    • E Landais,
    • M Mozelle,
    • A C Chinault,
    • A Patel,
    • C A Bacino,
    • T Sahoo,
    • S H Kang,
    • S W Cheung,
    • J R Lupski,
    • P Stankiewicz
    J Med Genet 2009;46:12 825-833 Published Online First: 6 July 2009 doi:10.1136/jmg.2009.067637

  • Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain

    • J Chen,
    • G Wildhardt,
    • Z Zhong,
    • R Röth,
    • B Weiss,
    • D Steinberger,
    • J Decker,
    • W F Blum,
    • G Rappold
    J Med Genet 2009;46:12 834-839 Published Online First: 2 July 2009 doi:10.1136/jmg.2009.067785
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Short report

  • Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis: increased susceptibility in male carriers of the −2578AA genotype

    • D Lambrechts,
    • K Poesen,
    • R Fernández-Santiago,
    • A Al-Chalabi,
    • R Del Bo,
    • P W J Van Vught,
    • S Khan,
    • S L Marklund,
    • A Brockington,
    • I van Marion,
    • J Anneser,
    • C Shaw,
    • A C Ludolph,
    • N P Leigh,
    • G P Comi,
    • T Gasser,
    • P J Shaw,
    • K E Morrison,
    • P M Andersen,
    • L H Van den Berg,
    • V Thijs,
    • T Siddique,
    • W Robberecht,
    • P Carmeliet
    J Med Genet 2009;46:12 840-846 Published Online First: 15 April 2008 doi:10.1136/jmg.2008.058222

Letters to JMG

  • 2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

    • S Jaillard,
    • C Dubourg,
    • M Gérard-Blanluet,
    • A Delahaye,
    • L Pasquier,
    • C Dupont,
    • C Henry,
    • A-C Tabet,
    • J Lucas,
    • A Aboura,
    • V David,
    • B Benzacken,
    • S Odent,
    • E Pipiras
    J Med Genet 2009;46:12 847-855 Published Online First: 23 September 2008 doi:10.1136/jmg.2008.058156

  • Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes

    • B Y Choi,
    • A C Madeo,
    • K A King,
    • C K Zalewski,
    • S P Pryor,
    • J A Muskett,
    • W E Nance,
    • J A Butman,
    • C C Brewer,
    • A J Griffith
    J Med Genet 2009;46:12 856-861 Published Online First: 2 July 2009 doi:10.1136/jmg.2009.067892

PostScript

  • Correction: Correction

    J Med Genet 2009;46:12 861 doi:10.1136/jmg.2008.064063corr1

  • Correction: Correction

    J Med Genet 2009;46:12 861 doi:10.1136/jmg.2008.058883corr1

  • Correction: Correction

    J Med Genet 2009;46:12 861 doi:10.1136/jmg.2006.038356corr1

Mutation report

  • Contribution of RET, NTRK3 and EDN3 to the expression of Hirschsprung disease in a multiplex family

    • A Sánchez-Mejías,
    • R M Fernández,
    • M López-Alonso,
    • G Antiñolo,
    • S Borrego
    J Med Genet 2009;46:12 862-864 Published Online First: 25 June 2009 doi:10.1136/jmg.2009.067819

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